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Biomedical subjects

M F Blanck

Publications and source records attributed to M F Blanck.

At least 19 recordsLinked to original sources
PubMed1985

[Oculocerebral anomalies in Walker's lissencephaly].

Two new cases of Walker's lissencephaly are reported. In this disease first described by Walker in 1942 important cerebral malformations and various ocular anomalies are associated. The main cerebral malformations consist of hydrocephalus and agyria, and the ocular anomalies concern the anterior segment as well as the retina which is frequently dysplastic. The originality of our cases is due to the retina which was not dysplastic but showed particular modifications which are discussed. Moreover, in the second case the cerebral cortex was rather microgyric. The aspect of the ocular lesions and of some of the cerebro-meningeal findings bring the authors to discuss the autosomal recessive inheritance proposed by some neuropathologists; these aspects can suggest a possible foetopathy.

Abnormalities, Multiple↗
PubMed1976

[Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome].

The authors report 20 cases of a syndrome named nephronophtisis and probably the same as the syndrome of medullar cystic disease. In all cases systematic electroretinography is performed. Nine cases show important deterioration of the outline. These cases can be included in the syndrome of Senior-Loken. The pathogenesis and familial character of this disease are discussed. The disturbances that appeared between the ocular and renal lesions suggest that there are probably two genes rather than a single pleiotropic gene.

Adolescent↗